【摘要】 配子母细胞特异因子1(Gtsf1)属UPF0224蛋白家族,含一个保守的CHHC锌指结构域,对生殖细胞的发育至关重要.小鼠(Mus musculus)和果蝇(Drosophila melanogaster)中Gtsf1的缺失分别导致雄性和雌性不育,高不育风险(HIR)隐睾症患者的睾丸中GTSF1的mRNA和蛋白表达均显著下调,但gtsf1在精子发生中的功能机制尚不完全清楚.利用类转录激活因子效应物核酸酶(TALEN)技术,首次在斑马鱼(Danio rerio)中成功制备了gtsf1突变体.观察发现,突变体的生长、表型正常,但gtsf1纯合突变体(gtsf1-/-)成鱼全为雄性.进一步的组织学观察表明,gtsf1-/-成鱼精巢中初级精母细胞数量基本正常,次级精母细胞显著减少,精细管管腔中精子极少或缺失.提示gtsf1在脊椎动物的精子发生过程中有保守的作用.本研究为阐明gtsf1在精子发育中的作用机制奠定了基础.更多还原

【Abstract】 Gametocyte-specific factor 1(Gtsf1), a member of the UPF0224 family, contains a conserved CHHC Zn-finger domain and is essential for the development of germ cells. Deficiencies in Gtsf1 result in male sterility in mice and female infertility in fruit flies. Additionally, both the mRNA and protein of GTSF1 are significantly reduced in the testis of high-infertility-risk cryptorchidism patients. However, the mechanisms remain unclear. In this study, zebrafish Gtsf1 mutants were generated using TALEN technology. The phenotypes of zebrafish mutants appeared to be normal. However, all zebrafish homozygous Gtsf1 mutants(gtsf1-/-) were male. Histologic section analysis showed that the number of secondary spermatocytes was significantly reduced in the zebrafish Gtsf1-/- gonads, and the number of sperm was low or nearly absent in the testicular seminiferous tube cavity. The number of preliminary spermatocytes was similar to that of wild-type. These results indicate that Gtsf1 plays a conserved role in vertebrate spermatogenesis. Our results provide a foundation for studies of the mechanism of Gtsf1 during vertebrate spermatogenesis.更多还原